Canonical Allele Identifier: CA506999726
Gene: GPI HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.34890478C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399573C>A , CM000681.2:g.34399573C>A GRCh38
NC_000019.9:g.34890478C>A , CM000681.1:g.34890478C>A GRCh37
NC_000019.8:g.39582318C>A NCBI36
NG_012838.2:g.39834C>A
NG_012838.3:g.44982C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1416C>A MANE Select ENSP00000348877.3:p.Arg472=
ENST00000415930.8:c.1533C>A ENSP00000405573.3:p.Arg511=
ENST00000586425.2:c.1158-163C>A
ENST00000588991.7:c.1449C>A ENSP00000465858.3:p.Arg483=
ENST00000643067.1:n.2461C>A
ENST00000647446.1:c.*467C>A ENSP00000495129.1:n.*467C>A
ENST00000356487.9:c.1416C>A ENSP00000348877.3:p.Arg472=
ENST00000415930.7:c.1449C>A ENSP00000405573.2:p.Arg483=
ENST00000586077.1:n.2291C>A
ENST00000586392.1:n.1154C>A
ENST00000586425.1:c.1398+238C>A ENSP00000467670.2:n.1398+238C>A
ENST00000588991.6:c.1461C>A ENSP00000465858.2:p.Arg487=
ENST00000592740.5:c.193+2916C>A
NM_000175.3:c.1416C>A NP_000166.2:p.Arg472=
NM_001184722.1:c.1449C>A NP_001171651.1:p.Arg483=
NM_001289789.1:c.1533C>A NP_001276718.1:p.Arg511=
NM_001289790.1:c.1332C>A NP_001276719.1:p.Arg444=
XM_005258764.1:c.1416C>A XP_005258821.1:p.Arg472=
XM_006723148.1:c.1416C>A XP_006723211.1:p.Arg472=
XM_011526754.1:c.1533C>A XP_011525056.1:p.Arg511=
NM_000175.5:c.1416C>A MANE Select NP_000166.2:p.Arg472=
NM_001289790.2:c.1332C>A NP_001276719.1:p.Arg444=
NM_001329909.1:c.1416C>A NP_001316838.1:p.Arg472=
NM_001329910.1:c.1416C>A NP_001316839.1:p.Arg472=
NM_001329911.1:c.1389C>A NP_001316840.1:p.Arg463=
XM_011526754.3:c.1533C>A XP_011525056.1:p.Arg511=
NM_001289790.3:c.1332C>A NP_001276719.1:p.Arg444=
NM_001329911.2:c.1389C>A NP_001316840.1:p.Arg463=